V20A (p.Val20Ala) variant of ITGB4 (Integrin beta-4)
V20A (p.Val20Ala) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- TOPMed rs947482911
- Missense
- Variant Prioritization Score for Impact Estimate 0.094
- REVEL 0.12
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available